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首页> Pediatric neurology> Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?

Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?

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作者： Antonino,Romeo ^[1] ; Monica,Lodi ^[2] ; Maurizio,Viri ^[2] ; Eliana,Parente ^[2] ; Maurizia,Baldi ^[3] ; Andrea,Righini ^[4] ; Donatella,Milani ^[5]

作者单位： Pediatric Neurology Unit and Epilepsy Center, Department of Neuroscience, "Fatebenefratelli e Oftalmico" Hospital, Milano, Italy. Electronic address: antonino.romeo@fbf.milano.it. ^[1] Pediatric Neurology Unit and Epilepsy Center, Department of Neuroscience, "Fatebenefratelli e Oftalmico" Hospital, Milano, Italy. ^[2] Laboratory of Human Genetic, Italy, Molecular Biology, "Galliera" Hospital, Genova, Italy. ^[3] Radiology and Neuroradiology Department, Children's Hospital "V. Buzzi", Milano, Italy. ^[4] Pediatric Clinic I, Department of Pathophysiology and Transplantation, University of Milan Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy. ^[5]

关键词 FGFR3 gene Hypochondroplasia focal dysplasia focal temporal epilepsy hippocampus abnormalities medial temporal lobe dysgenesis

主题词骨和骨组织(Bone and Bones);脑(Brain);侏儒症(Dwarfism);脑电描记术(Electroencephalography);癫痫, 部分性(Epilepsies, Partial);女(雌)性(Female);人类(Humans);婴儿(Infant);肢畸形, 先天性(Limb Deformities, Congenital);脊柱前凸(Lordosis);磁共振成像(Magnetic Resonance Imaging);突变(Mutation);受体, 成纤维细胞生长因子, 3型(Receptor, Fibroblast Growth Factor, Type 3);综合征(Syndrome);颞叶(Temporal Lobe);录像(Video Recording)

DOI 10.1016/j.pediatrneurol.2014.01.004

PMID 24630288

发布时间 2014-03-17

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